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rs199474659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474659(C;T)
Make rs199474659(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position3256
GeneDDX27
is asnp
is mentioned by
dbSNPrs199474659
ebirs199474659
HLIrs199474659
Exacrs199474659
Varsomers199474659
Maprs199474659
PheGenIrs199474659
hapmaprs199474659
1000 genomesrs199474659
hgdprs199474659
ensemblrs199474659
gopubmedrs199474659
geneviewrs199474659
scholarrs199474659
googlers199474659
pharmgkbrs199474659
gwascentralrs199474659
openSNPrs199474659
23andMers199474659
23andMe allrs199474659
SNP Nexus

SNPshotrs199474659
SNPdbers199474659
MSV3drs199474659
GWAS Ctlgrs199474659
Max Magnitude0
ClinVar
Risk rs199474659(T;T)
Alt rs199474659(T;T)
Reference rs199474659(C;C)
Significance Pathogenic
Disease Myoclonus with epilepsy with ragged red fibers Diabetes mellitus
Variation info
Gene
CLNDBN Myoclonus with epilepsy with ragged red fibers Diabetes mellitus, noninsulin-dependent, maternally transmitted
Reversed 0
HGVS NC_012920.1:m.3256C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010213.2, RCV000010214.2,